Haemophilia: Symptoms, Diagnosis and Treatment

World Haemophiliad day, Medica
Haemophilia is a bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgeries. It is a genetic disorder and usually inherited. In rare cases, an individual can develop haemophilia later in life. The majority of such cases involve middle-aged or elderly people or young women who have recently given birth or are in the later stages of pregnancy. This condition often resolves with appropriate treatment.

Causes of Haemophilia

When you bleed, the body normally pools blood cells together, forming a clot to stop the bleeding. The clotting process is encouraged by certain clotting factors. Coagulation or clotting factors are proteins present in the blood that help control bleeding. They are known by Roman numerals (I, II, VIII, etc.) or by names like fibrinogen, prothrombin, Haemophilia A, etc.)

Haemophilia occurs when clotting factors VII or IX are defective or missing.

Though mostly an inherited disorder, about 30% of people with haemophilia have no family history. In these people, an unexpected change occurs in one of the genes associated with haemophilia. Acquired haemophilia is a rare condition that occurs when a person’s immune system attacks clotting factors in the blood. It can be associated with:
• Pregnancy
• Autoimmune conditions
• Cancer
• Multiple sclerosis

Types

Haemophilia A (Classic Haemophilia) is caused by a lack or decrease of clotting factor VIII
Haemophilia B (Christmas Disease) is caused by a lack or decrease of clotting factor IX

Signs and Symptoms

Symptoms depend on the severity of the problem. A minor deficiency may lead to bleeding only post surgery or injury, while a more severe form can cause spontaneous bleeding. Internal bleeding can sometimes go undetected causing risk to life. Common signs of haemophilia include:
• Bleeding into the joints can lead to swelling, pain, or tightness; it often affects the knees, elbows, and ankles
• Bleeding into the skin (bruising) or muscle and soft tissue causing a build-up of blood in the area (called a haematoma)
• Bleeding of the gums and mouth, and bleeding that’s hard to stop after losing a tooth
• Bleeding after circumcision
• Frequent and hard-to-stop nosebleeds
• Bleeding after vaccination
• Bleeding in the head of an infant, especially after a difficult delivery
• Blood in the stool or urine

Haemophilia Can Result In

• Bleeding within the joints that can further lead to chronic joint diseases and severe pain
• Bleeding in the head and in the brain that can cause long-term problems, such as seizures or paralysis
• Death can occur if bleeding cannot be stopped or if it occurs in vital organs such as the brain
Tips for Prevention
• Get an annual checkup at a haemophilia treatment center
• Get vaccinated—Hepatitis A and B are preventable
• Treat bleeds early and adequately
• Exercise regularly and maintain a healthy weight to protect joints
• Get tested regularly for blood-borne infections

Diagnosis of Haemophilia

Many people who have or have had family members with haemophilia should get their babies to get tested soon after birth. It is important to note that about one-third of babies who are diagnosed with haemophilia have no other family members with the disorder. A doctor might check for haemophilia if a newborn shows certain signs or symptoms of haemophilia.

Diagnosis includes screening tests and clotting factor tests. Screening tests are blood tests that show if the blood is clotting properly. Clotting factor tests, or factor assays, are needed to diagnose a bleeding disorder. The blood test shows the type of haemophilia and its severity.

Treatment of Haemophilia

The ideal way to treat haemophilia is to replace the missing blood clotting factor, so that the blood can clot properly. This is done by injecting treatment products, known as clotting factor concentrates, into an individual’s vein. Clinicians typically prescribe treatment products for episodic care or prophylactic care. Episodic care is used to stop an individual’s bleeding episodes; prophylactic care is used to prevent bleeding episodes from occurring.

Today, it’s possible for people with haemophilia, and their families, to learn how to give their own clotting factor treatment products at home. Giving factor treatment products at home indicates that bleeds can be treated faster, resulting in comparatively less serious bleeding and fewer side effects.

When to See a Doctor

Seek immediate care if you or your child experiences any or all of the following:
• Signs or symptoms of bleeding into the brain
• Any injury after which the bleeding isn’t stopping
• Swollen joints that are painful to bend or hot to the touch
If you have a family history of haemophilia, you may want to undergo genetic testing to see if you’re a carrier of the disease before you start a family.

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